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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Smchd1 and Arhinia, Choanal Atresia, and Microphthalmia in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SMCHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Arhinia, Choanal Atresia, and Microphthalmia  (DOID:9007423)
  • 2 papers in RGD have been used to annotate Smchd1


  • An association has been curated linking Smchd1 and Arhinia, Choanal Atresia, and Microphthalmia in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SMCHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Arhinia, Choanal Atresia, and Microphthalmia  (DOID:9007423)
  • 2 papers in RGD have been used to annotate Smchd1
  • Curation Notes: ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia
  • Original References(s): PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:31243061 PMID:31312724 PMID:5032329 PMID:672092 PMID:6802865 PMID:8446727 PMID:8723126


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